Background/Purpose: Receiving a diagnosis of systemic sclerosis (SSc) can be straightforward process for some, whereas others have a circuitous route.  Given that complications can often arise early and lead to death, reducing the length of time until diagnosis is crucial (1).  To the extent that understanding patients’ experiences in the diagnostic process may help find ways to shorten it, we retrospectively examined the process patients with SSc experienced from the point of first symptoms through diagnosis. 

Methods: Patients with SSc were approached to participate by their rheumatologist (specializing in scleroderma) during an office visit.  Sixty-four patients (42% diffuse, 45% limited, 13% unknown) completed open-ended questions (e.g., what was your experience when you first felt unwell and when you were diagnosed with scleroderma).  Two researchers independently categorized responses; discrepancies were resolved by discussion.  One researcher reviewed patients’ records. All patients included met ACR-Eular criteria for diagnosis of systemic sclerosis.

Results: Regarding length of time from first symptoms to SSc diagnosis, 48% of patients reported being diagnosed within one year, 31% within 1-4 years, and 21% were diagnosed more than 4 years after the first symptoms appeared.

Overall, 75% of patients reported an initial symptom(s) involving their hands (53% Raynaud’s).  The 25% without symptoms involving hands commonly reported pain (50%), shortness of breath (31%), and gastrointestinal issues (19%).

Patients reported seeing up to seven health providers during the diagnostic process (M = 2.64).  When patients first noticed symptoms, 33% saw their primary care physician (PCP) and/or a rheumatologist (27%), and 19% saw their PCP subsequently.  Thirty-one percent of patients had a provider suspect SSc before it was diagnosed (13% of providers was a rheumatologist who referred them to a scleroderma specialist, 6% was their PCP).  One-third of patients were diagnosed with another condition before receiving the scleroderma diagnosis.  Some of these were a mis-diagnosis (e.g., carpal tunnel syndrome, lupus); others likely did have SSc as the underlying, but unrecognized, cause (e.g., arthritis, pulmonary arterial hypertension).  Fifty percent of patients reported a SSc diagnosis from a scleroderma specialist, 38% from a different rheumatologist, and 3% from their PCP.

Conclusion: With 1 in 5 of patients being undiagnosed for more than four years, and only about 30% of patients having a health provider suspect a SSc diagnosis, educational efforts should make SSc a more salient diagnosis for providers.  Three-quarters of patients reported initial symptoms involving their hands.  About half of patients saw their PCP at some point in the diagnostic process, but only 9% reported their PCP suspected SSc. 

Taken together, these data suggest educational efforts targeting PCPs and specialists to consider scleroderma more readily as a diagnostic possibility.   SSc should be, but often is not, included in differential diagnosis of persistent hand complaints.

References

1. Guiducci S, Bellando-Randone S, Matucci-Cerinic M.  A new way of thinking about systemic sclerosis: The opportunity for a very early diagnosis. Isr Med Assoc J 2016; 18:141-3.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/pathway-to-systemic-sclerosis-concerning-patients-experiences-during-the-diagnostic-process/